Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SAMD4A_chr14_54562128_54798312	54675367	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00733.hp2 HG00741.hp1 others(11): Show HG00544.hp2 HG00733.hp2 HG00741.hp1 HG01106.hp1 HG01192.hp1 HG01358.hp1 HG01928.hp2 HG02056.hp1 HG02615.hp1 HG04228.hp2 NA18943.hp2 NA18968.hp2 NA19060.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0017 a0001c0001t0034 a0001c0001t0039 a0001c0001t0050 a0001c0001t0065 a0001c0001t0066 a0001c0001t0083	a0001c0001t0001g0107 a0001c0001t0002g0163 a0001c0001t0002g0241 others(11): Show a0001c0001t0001g0107 a0001c0001t0002g0163 a0001c0001t0002g0241 a0001c0001t0002g0244 a0001c0001t0003g0233 a0001c0001t0012g0151 a0001c0001t0012g0236 a0001c0001t0017g0081 a0001c0001t0034g0038 a0001c0001t0039g0002 a0001c0001t0050g0006 a0001c0001t0065g0256 a0001c0001t0066g0208 a0001c0001t0083g0194	14	262	0.0534	13	c.197 others(32): Show c.197-26687_197-26675dupAAAAAAAAAAAAA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54737561	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp1 HG01175.hp1 others(19): Show HG01081.hp1 HG01106.hp1 HG01175.hp1 HG01255.hp1 HG01433.hp1 HG01496.hp2 HG01891.hp1 HG02055.hp1 HG03471.hp1 HG03704.hp1 HG04199.hp2 NA18943.hp2 NA18947.hp2 NA18984.hp2 NA18986.hp1 NA19004.hp1 NA19030.hp1 NA19060.hp2 NA19070.hp2 NA19085.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0026 a0001c0002t0005 a0001c0006t0042 a0002c0003t0002	a0001c0001t0001g0026 a0001c0001t0001g0052 a0001c0001t0002g0164 others(19): Show a0001c0001t0001g0026 a0001c0001t0001g0052 a0001c0001t0002g0164 a0001c0001t0002g0203 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0003g0233 a0001c0001t0004g0050 a0001c0001t0004g0116 a0001c0001t0006g0221 a0001c0001t0013g0234 a0001c0001t0014g0009 a0001c0001t0014g0102 a0001c0001t0017g0081 a0001c0001t0019g0104 a0001c0001t0020g0069 a0001c0001t0022g0001 a0001c0001t0026g0137 a0001c0001t0026g0240 a0001c0002t0005g0072 a0001c0006t0042g0023 a0002c0003t0002g0245	22	262	0.0840	13	c.979 others(28): Show c.979+274_979+275insTTTTTTTTTTTTG	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	4/12			chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54748567	C C	CCTGAATG others(6): Show CCTGAATGCCCTGA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0070 a0001c0001t0004g0070	1	262	0.0038	13	c.980 others(28): Show c.980-248_980-247insCTGAATGCCCTGA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	4/12			chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54757425	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTTT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0137 a0001c0001t0026g0137	1	262	0.0038	13	c.117 others(32): Show c.1177-2733_1177-2732insGTGTGTGTTTTGT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54757428	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0172 a0001c0001t0006g0172	1	262	0.0038	13	c.117 others(32): Show c.1177-2733_1177-2732insGTGTGTGTGTGTG	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	6/12			chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54795977	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0028 a0001c0001t0008g0028	1	262	0.0038	13	c.70 others(24): Show c.7033_*7034insGTGTGTGTGTGTG	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding		2666		chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54796023	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	262	0.0038	13	c.70 others(24): Show c.7079_*7080insGTGTGTGTGTGTG	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding		2712		chr14	TogoVar
SAMD8_chr10_75106656_75187123	75148346	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG03492.hp1 HG03654.hp2 others(3): Show HG02300.hp1 HG03492.hp1 HG03654.hp2 HG04115.hp1 NA18964.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0041 others(3): Show a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0024g0023	6	324	0.0185	13	c.-15 others(30): Show c.-15-2155_-15-2143dupTTTTTTTTTTTTT	SAMD8	ENSG00000156671.15	transcript	ENST00000542569.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
SAMM50_chr22_43950442_44001529	43962881	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01993.hp2 HG03017.hp2 HG01123.hp1 HG01993.hp2 HG03017.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0021 a0002c0001t0001g0258 a0002c0001t0001g0021 a0002c0001t0001g0258	3	378	0.0079	13	c.22- others(26): Show c.22-384_22-372dupTTTTTTTTTTTTT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMSN1_chr21_14480228_14551315	14481572	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	408	0.0025	13	c.43 others(24): Show c.4339_*4340insTTTTTTTTTTTTT	SAMSN1	ENSG00000155307.19	transcript	ENST00000400566.6	protein_coding		3655		chr21	TogoVar
SAMSN1_chr21_14480228_14551315	14530339	A A	AGAAAGAA others(6): Show AGAAAGAAATAATC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03209.hp2 HG03486.hp2 others(1): Show HG02895.hp1 HG03209.hp2 HG03486.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0014 a0001c0001t0001g0172 a0001c0001t0007g0173 a0001c0001t0001g0014 a0001c0001t0001g0172 a0001c0001t0007g0173	4	408	0.0098	13	c.58- others(28): Show c.58-9119_58-9118insGATTATTTCTTTC	SAMSN1	ENSG00000155307.19	transcript	ENST00000400566.6	protein_coding	1/7			chr21	TogoVar
SANBR_chr2_61060871_61129280	61072821	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0221	1	346	0.0029	13	c.338 others(28): Show c.338-620_338-608dupTTTTTTTTTTTTT	SANBR	ENSG00000162929.14	transcript	ENST00000402291.6	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr2	TogoVar
SAP18_chr13_21135119_21154097	21150909	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG01515.hp2 others(11): Show HG00280.hp1 HG00423.hp2 HG01515.hp2 HG01517.hp1 HG01981.hp1 HG01981.hp2 HG02135.hp1 HG03492.hp2 NA18968.hp1 NA18978.hp1 NA18986.hp2 NA19080.hp2 NA19087.hp2 NA19088.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0029 a0003c0004t0001g0001	14	426	0.0329	13	c.35 others(24): Show c.3567_*3568insAAAAAAAAAAAAA	SAP18	ENSG00000150459.13	transcript	ENST00000382533.9	protein_coding		1813		chr13	TogoVar
SAP30BP_chr17_75662338_75713059	75687917	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	370	0.0027	13	c.265 others(30): Show c.265-5523_265-5522insTGTGTGTGTGTGT	SAP30BP	ENSG00000161526.15	transcript	ENST00000584667.6	protein_coding	3/10			chr17	TogoVar
SAP30BP_chr17_75662338_75713059	75709792	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG03098.hp1 HG03453.hp2 others(3): Show HG02135.hp1 HG03098.hp1 HG03453.hp2 NA19001.hp2 NA19030.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0030 a0001c0001t0001g0049 a0001c0001t0001g0070 others(3): Show a0001c0001t0001g0030 a0001c0001t0001g0049 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0285 a0001c0001t0018g0148	6	370	0.0162	13	c.32 others(24): Show c.3271_*3272insAAAAAAAAAAAAA	SAP30BP	ENSG00000161526.15	transcript	ENST00000584667.6	protein_coding		1734		chr17	TogoVar
SAP30L_chr5_154440997_154466053	154452743	A A	AGTTCTTC others(6): Show AGTTCTTCCCCACT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	460	0.0022	13	c.325 others(28): Show c.325-658_325-657insTTCTTCCCCACTG	SAP30L	ENSG00000164576.12	transcript	ENST00000297109.11	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SAPCD2_chr9_137057127_137075557	137070668	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0017 a0001c0001t0009g0017	1	414	0.0024	13	c.-20 others(22): Show c.-209_-208insAAAAAAAAAAAAA	SAPCD2	ENSG00000186193.9	transcript	ENST00000409687.5	protein_coding		112		chr9	TogoVar
SAR1A_chr10_70142289_70175514	70149547	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG01243.hp1 HG01891.hp1 others(7): Show HG00544.hp1 HG01243.hp1 HG01891.hp1 HG04204.hp2 NA18946.hp1 NA18959.hp1 NA18995.hp1 NA19043.hp1 NA19055.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0050 a0001c0001t0088 others(1): Show a0001c0001t0013 a0001c0001t0050 a0001c0001t0088 a0001c0001t0156	a0001c0001t0013g0019 a0001c0001t0013g0054 a0001c0001t0013g0058 others(6): Show a0001c0001t0013g0019 a0001c0001t0013g0054 a0001c0001t0013g0058 a0001c0001t0013g0061 a0001c0001t0013g0062 a0001c0001t0050g0125 a0001c0001t0050g0144 a0001c0001t0088g0080 a0001c0001t0156g0160	10	420	0.0238	13	c.29 others(24): Show c.2916_*2928dupAAAAAAAAAAAAA	SAR1A	ENSG00000079332.16	transcript	ENST00000373241.9	protein_coding	7/7	2928		chr10	TogoVar
SAR1A_chr10_70142289_70175514	70151259	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01070.hp1 others(15): Show HG00642.hp1 HG00735.hp1 HG01070.hp1 HG01074.hp1 HG01106.hp2 HG01255.hp1 HG02027.hp1 HG02083.hp1 HG03688.hp2 HG03831.hp1 HG03942.hp1 NA18962.hp2 NA18993.hp1 NA19001.hp1 NA19007.hp2 NA19009.hp2 NA19075.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0024 a0001c0001t0036 others(6): Show a0001c0001t0017 a0001c0001t0024 a0001c0001t0036 a0001c0001t0070 a0001c0001t0141 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0162	a0001c0001t0017g0206 a0001c0001t0017g0211 a0001c0001t0017g0248 others(15): Show a0001c0001t0017g0206 a0001c0001t0017g0211 a0001c0001t0017g0248 a0001c0001t0017g0249 a0001c0001t0017g0271 a0001c0001t0024g0194 a0001c0001t0024g0223 a0001c0001t0024g0239 a0001c0001t0024g0279 a0001c0001t0036g0231 a0001c0001t0036g0235 a0001c0001t0036g0287 a0001c0001t0070g0192 a0001c0001t0141g0246 a0001c0001t0142g0213 a0001c0001t0143g0221 a0001c0001t0144g0222 a0001c0001t0162g0227	18	420	0.0429	13	c.12 others(24): Show c.1204_*1216dupTTTTTTTTTTTTT	SAR1A	ENSG00000079332.16	transcript	ENST00000373241.9	protein_coding	7/7	1216		chr10	TogoVar
SAR1B_chr5_134596149_134637828	134612641	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA19055.hp1 NA19085.hp1 HG00597.hp2 NA19055.hp1 NA19085.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0006c0006t0001 a0001c0001t0001 a0001c0001t0002 a0006c0006t0001	a0001c0001t0001g0217 a0001c0001t0002g0230 a0006c0006t0001g0239 a0001c0001t0001g0217 a0001c0001t0002g0230 a0006c0006t0001g0239	3	322	0.0093	13	c.244 others(26): Show c.244+37_244+49dupTTTTTTTTTTTTT	SAR1B	ENSG00000152700.14	transcript	ENST00000402673.7	protein_coding	4/6			chr5	TogoVar
SARS1_chr1_109208918_109243182	109222010	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	402	0.0025	13	c.137 others(30): Show c.137-1967_137-1966insATATATATATTTT	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARS1_chr1_109208918_109243182	109226677	A A	AAAAATAT others(6): Show AAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	402	0.0025	13	c.208 others(30): Show c.208-1674_208-1673insAAATATATATATA	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARS1_chr1_109208918_109243182	109226677	A A	AAATATAT others(6): Show AAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0062 a0001c0001t0001g0063	2	402	0.0050	13	c.208 others(30): Show c.208-1674_208-1673insATATATATATATA	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARS2_chr19_38910266_38935763	38913768	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01361.hp1 HG02129.hp2 others(13): Show HG01175.hp1 HG01361.hp1 HG02129.hp2 HG02257.hp1 HG02273.hp2 HG03471.hp1 HG04228.hp1 NA18612.hp1 NA18957.hp2 NA18962.hp2 NA18966.hp1 NA18975.hp1 NA18979.hp1 NA18987.hp1 NA19001.hp2 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 others(9): Show a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0018 a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0151 a0001c0002t0001g0153 a0001c0002t0001g0159 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0171	16	420	0.0381	13	c.18 others(24): Show c.1837_*1838insTTTTTTTTTTTTT	SARS2	ENSG00000104835.15	transcript	ENST00000221431.11	protein_coding		1497		chr19	TogoVar
SASH1_chr6_148337838_148557044	148356494	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	322	0.0031	13	c.156 others(32): Show c.156+13279_156+13291dupTTTTTTTTTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148381617	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp2 HG02055.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0017 a0001c0003t0001 a0001c0001t0017 a0001c0003t0001	a0001c0001t0017g0231 a0001c0003t0001g0135 a0001c0001t0017g0231 a0001c0003t0001g0135	2	322	0.0062	13	c.157 others(30): Show c.157-8503_157-8491dupTTTTTTTTTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387624	C C	CTTCCTTC others(6): Show CTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0135 a0001c0003t0001g0135	1	322	0.0031	13	c.157 others(30): Show c.157-2508_157-2507insCCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387636	C C	CTTCCTTC others(6): Show CTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	322	0.0031	13	c.157 others(30): Show c.157-2496_157-2495insCCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387640	C C	CTTCCTTC others(6): Show CTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0140 a0002c0002t0002g0140	1	322	0.0031	13	c.157 others(30): Show c.157-2492_157-2491insCCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387644	C C	CTTCCTTC others(6): Show CTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02004.hp1 HG02004.hp2 others(1): Show HG01169.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0010 a0003c0006 a0002c0002 a0002c0010 a0003c0006	a0002c0002t0001 a0002c0002t0004 a0002c0010t0003 others(1): Show a0002c0002t0001 a0002c0002t0004 a0002c0010t0003 a0003c0006t0002	a0002c0002t0001g0211 a0002c0002t0004g0226 a0002c0010t0003g0049 others(1): Show a0002c0002t0001g0211 a0002c0002t0004g0226 a0002c0010t0003g0049 a0003c0006t0002g0065	4	322	0.0124	13	c.157 others(30): Show c.157-2488_157-2487insCCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387648	C C	CTTCCTTC others(6): Show CTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0124 a0001c0001t0007g0124	1	322	0.0031	13	c.157 others(30): Show c.157-2484_157-2483insCCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148399214	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0155 a0001c0001t0016g0155	1	322	0.0031	13	c.285 others(30): Show c.285+8966_285+8978dupTTTTTTTTTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148428629	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00639.hp1 others(28): Show HG00140.hp2 HG00280.hp2 HG00639.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01243.hp2 HG01361.hp2 HG01891.hp2 HG01943.hp1 HG02055.hp2 HG02080.hp2 HG02273.hp1 HG02451.hp1 HG02559.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03927.hp1 NA18943.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0007 others(4): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0004 a0002c0010 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0034 a0001c0003t0007 a0001c0007t0005 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0008 a0002c0002t0009 a0002c0002t0018 a0002c0004t0015 a0002c0010t0003 a0003c0006t0001	a0001c0001t0001g0157 a0001c0001t0001g0198 a0001c0001t0002g0086 others(28): Show a0001c0001t0001g0157 a0001c0001t0001g0198 a0001c0001t0002g0086 a0001c0001t0002g0092 a0001c0001t0002g0127 a0001c0001t0005g0221 a0001c0001t0005g0269 a0001c0001t0005g0315 a0001c0001t0007g0064 a0001c0001t0007g0304 a0001c0001t0008g0063 a0001c0001t0009g0165 a0001c0001t0013g0182 a0001c0001t0016g0155 a0001c0001t0017g0231 a0001c0001t0020g0170 a0001c0001t0034g0225 a0001c0003t0007g0270 a0001c0007t0005g0322 a0002c0002t0001g0104 a0002c0002t0003g0196 a0002c0002t0004g0047 a0002c0002t0004g0080 a0002c0002t0004g0281 a0002c0002t0004g0282 a0002c0002t0008g0311 a0002c0002t0009g0236 a0002c0002t0018g0120 a0002c0004t0015g0293 a0002c0010t0003g0003 a0003c0006t0001g0077	31	322	0.0963	13	c.286 others(32): Show c.286-11554_286-11542dupAAAAAAAAAAAAA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148449078	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0225 a0001c0001t0034g0225	1	322	0.0031	13	c.386 others(30): Show c.386+8674_386+8686dupTTTTTTTTTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148482688	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01361.hp1 HG01981.hp2 others(4): Show HG00423.hp2 HG01361.hp1 HG01981.hp2 HG02257.hp1 NA18946.hp2 NA19004.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0013 a0002c0002 a0002c0005 others(1): Show a0001c0013 a0002c0002 a0002c0005 a0002c0037	a0001c0013t0002 a0002c0002t0002 a0002c0002t0004 others(2): Show a0001c0013t0002 a0002c0002t0002 a0002c0002t0004 a0002c0005t0006 a0002c0037t0006	a0001c0013t0002g0193 a0002c0002t0002g0029 a0002c0002t0004g0009 others(4): Show a0001c0013t0002g0193 a0002c0002t0002g0029 a0002c0002t0004g0009 a0002c0005t0006g0013 a0002c0005t0006g0105 a0002c0005t0006g0213 a0002c0037t0006g0145	7	322	0.0217	13	c.628 others(30): Show c.628-4920_628-4908dupTTTTTTTTTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148524121	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0016 a0002c0005t0006g0016	1	322	0.0031	13	c.121 others(32): Show c.1210-1169_1210-1168insATATATATATATT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148524121	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01255.hp2 HG01261.hp2 others(3): Show HG00738.hp1 HG01255.hp2 HG01261.hp2 HG02257.hp1 NA20129.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0013 a0002c0002 a0002c0005 a0001c0013 a0002c0002 a0002c0005	a0001c0013t0001 a0002c0002t0004 a0002c0005t0006 others(1): Show a0001c0013t0001 a0002c0002t0004 a0002c0005t0006 a0002c0005t0023	a0001c0013t0001g0164 a0002c0002t0004g0009 a0002c0005t0006g0061 others(3): Show a0001c0013t0001g0164 a0002c0002t0004g0009 a0002c0005t0006g0061 a0002c0005t0006g0105 a0002c0005t0006g0161 a0002c0005t0023g0219	6	322	0.0186	13	c.121 others(32): Show c.1210-1169_1210-1168insATATATATATTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH3_chrX_129774949_129800201	129789109	A A	AAAAAGAA others(6): Show AAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0045 a0001c0001t0005g0045	1	307	0.0033	13	c.300 others(28): Show c.300+535_300+536insAGAAAGAAAGAAA	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
SASH3_chrX_129774949_129800201	129789109	A A	AGAAAGAA others(6): Show AGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03491.hp2 HG00423.hp1 HG03491.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0011 a0001c0001 a0002c0011	a0001c0001t0003 a0002c0011t0001 a0001c0001t0003 a0002c0011t0001	a0001c0001t0003g0143 a0002c0011t0001g0178 a0001c0001t0003g0143 a0002c0011t0001g0178	2	307	0.0065	13	c.300 others(28): Show c.300+532_300+533insGAAAGAAAGAAAG	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7			chrX	TogoVar
SAT1_chrX_23778173_23791210	23780476	A A	ATATATAT others(6): Show ATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	330	0.0030	13	c.-28 others(24): Show c.-2876_-2875insTATATATATATAT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2696		chrX	TogoVar
SATL1_chrX_85087284_85248779	85118087	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp2 HG02109.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0046 a0001c0001t0004g0047 a0001c0001t0002g0046 a0001c0001t0004g0047	2	232	0.0086	13	c.-31 others(32): Show c.-312-8820_-312-8808dupAAAAAAAAAAAAA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SBF1_chr22_50440000_50480035	50446356	T T	TCCCCCCC others(6): Show TCCCCCCCCCCCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0106	a0001c0001t0106g0256 a0001c0001t0106g0256	1	402	0.0025	13	c.77 others(22): Show c.773_*785dupGGGGGGGGGGGGG	SBF1	ENSG00000100241.22	transcript	ENST00000380817.8	protein_coding	41/41	785		chr22	TogoVar
SBF1_chr22_50440000_50480035	50478517	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0035 a0001c0013t0035	a0001c0013t0035g0355 a0001c0013t0035g0355	1	402	0.0025	13	c.-36 others(24): Show c.-3690_-3678dupTTTTTTTTTTTTT	SBF1	ENSG00000100241.22	transcript	ENST00000380817.8	protein_coding		3483		chr22	TogoVar
SBF2_chr11_9773668_10299219	9794676	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	224	0.0045	13	c.457 others(32): Show c.4570+1142_4570+1154dupTTTTTTTTTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	33/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9835631	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01169.hp2 HG01258.hp2 others(4): Show HG00280.hp2 HG01169.hp2 HG01258.hp2 HG01891.hp2 HG01934.hp1 HG01975.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0001c0003t0004	a0001c0001t0002g0064 a0001c0001t0002g0070 a0001c0001t0002g0072 others(4): Show a0001c0001t0002g0064 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0084 a0001c0001t0004g0074 a0001c0001t0015g0108 a0001c0003t0004g0205	7	224	0.0313	13	c.345 others(32): Show c.3456-3224_3456-3212dupTTTTTTTTTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	26/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9871508	T T	TATTATTA others(6): Show TATTATTATTATTA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	224	0.0045	13	c.193 others(34): Show c.1930-13113_1930-13112insTAATAATAATAAT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	17/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9942901	G G	GAAGAAAG others(6): Show GAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	224	0.0045	13	c.186 others(34): Show c.1860+19055_1860+19056insTTCTTTCTTTCTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	16/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9974960	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02602.hp2 HG02683.hp1 others(2): Show HG01109.hp2 HG02602.hp2 HG02683.hp1 HG03831.hp2 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0002 a0001c0001t0004 a0004c0006t0004 a0001c0001t0002 a0001c0001t0004 a0004c0006t0004	a0001c0001t0002g0220 a0001c0001t0004g0146 a0001c0001t0004g0214 others(2): Show a0001c0001t0002g0220 a0001c0001t0004g0146 a0001c0001t0004g0214 a0001c0001t0004g0218 a0004c0006t0004g0217	5	224	0.0223	13	c.139 others(32): Show c.1396-6428_1396-6416dupTTTTTTTTTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	13/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10094528	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0108 a0001c0001t0015g0108	1	224	0.0045	13	c.142 others(32): Show c.142-51560_142-51548dupAAAAAAAAAAAAA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0096 a0001c0001t0010g0096	1	224	0.0045	13	c.56- others(28): Show c.56-2880_56-2879insAAAAATATATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar

Search by Variant

Search

Search Results